The TERC gene is responsible for a rare genetic disorder known as dyskeratosis congenita and is also associated with several other conditions. Dyskeratosis congenita is characterized by physical abnormalities, bone marrow failure, and an increased risk of certain types of cancer. It affects the skin, nails, and mucous membranes, and can also lead to pulmonary fibrosis, a condition that causes scarring in the lungs.

In individuals with dyskeratosis congenita, the TERC gene is altered, leading to dysfunction of telomeres. Telomeres are repetitive DNA sequences that cap the ends of chromosomes and protect them from degradation. Mutations in the TERC gene result in shortened telomeres, which have been linked to a variety of health issues including premature aging and an increased susceptibility to cancer.

Research has shown that the TERC gene is also involved in idiopathic pulmonary fibrosis, a progressive lung disease. Studies have found that certain variants of the TERC gene are associated with an increased risk of developing this condition. Understanding the role of the TERC gene in pulmonary fibrosis could lead to the development of targeted therapies and improved treatment options for affected individuals.

There are several resources available for individuals and families affected by TERC gene-related disorders. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the TERC gene and its associated disorders. The Genetic and Rare Diseases Information Center (GARD) offers a comprehensive catalog of resources for dyskeratosis congenita and other genetic disorders. Additionally, genetic testing can be conducted to identify changes or mutations in the TERC gene, providing valuable information for diagnosis and treatment.

Health Conditions Related to Genetic Changes

The TERC gene plays a crucial role in maintaining the length and integrity of telomeres, which are protective caps at the ends of chromosomes. Genetic changes in the TERC gene can lead to the development of various health conditions. Some of these conditions include:

• Dyskeratosis congenita: A group of rare inherited disorders characterized by abnormal nail, skin, and mucous membrane changes.
• Pulmonary fibrosis: A lung disease that causes scarring and stiffness of the lungs, leading to breathing difficulties.
• Cronkhite-Canada syndrome: A condition characterized by gastrointestinal polyposis, hair loss, and various skin changes.
• Idiopathic pulmonary fibrosis: A type of pulmonary fibrosis of unknown cause.

Genetic testing for TERC gene variants can help identify individuals at a higher risk of developing these diseases. The scientific literature, such as articles in PubMed and OMIM, provides valuable information about the genetic changes associated with these health conditions.

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References to TERC gene-related health conditions can be found in medical databases, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. These resources provide clinical and genetic information about the diseases caused by TERC gene changes.

It is important to note that changes in other genes involved in telomere biology, such as the TERT and DKC1 genes, can also contribute to the development of these health conditions.

Further studies and research on the TERC gene and its associated health conditions are necessary to understand the underlying mechanisms and potential treatment options.

Dyskeratosis congenita

Dyskeratosis congenita is a rare genetic disorder characterized by the progressive shortening of telomeres, which are the protective caps at the ends of chromosomes. This leads to premature aging and dysfunction of various organs in the body, including the skin, nails, and lungs.

Dyskeratosis congenita is a heterogenous disorder, meaning it can be caused by mutations in different genes. One gene that has been implicated in this condition is the TERC gene, which encodes a component of telomerase, the enzyme responsible for maintaining and lengthening telomeres. Mutations in the TERC gene can lead to the dysfunction of telomerase and subsequent telomere shortening.

Individuals with dyskeratosis congenita may present with a variety of clinical features, including skin pigmentation abnormalities, nail dystrophy, and bone marrow failure. Some individuals may also develop pulmonary fibrosis, a condition characterized by the formation of scar tissue in the lungs. Pulmonary fibrosis can lead to progressive respiratory impairment and is a significant cause of morbidity and mortality in individuals with dyskeratosis congenita.

Diagnosis of dyskeratosis congenita is based on clinical features and genetic testing. Genetic testing can identify mutations in genes associated with dyskeratosis congenita, such as the TERC gene. In some cases, telomere length testing may also be performed to assess telomere dysfunction. Hematology and lung function tests can provide additional information about the hematological and pulmonary abnormalities associated with this disorder.

The Dyskeratosis Congenita Registry (DCR) and the International Fanconi Anemia Registry (IFAR) are two central databases that collect clinical and genetic information on individuals with dyskeratosis congenita and related disorders. These registries serve as resources for healthcare providers and researchers, providing valuable information on the natural history, clinical features, and genetic factors associated with dyskeratosis congenita.

For more scientific literature on dyskeratosis congenita, interested individuals can refer to the OMIM (Online Mendelian Inheritance in Man) database and PubMed, which provide a comprehensive catalog of research articles and references on this disorder. Some notable scientific articles on dyskeratosis congenita include “Genetic and clinical advances in dyskeratosis congenita: a model for telomere-related diseases” by Calado and Young (2008) and “Dyskeratosis congenita and its variants” by Cronkhite and Raghu (2008).

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease that is characterized by the progressive scarring and thickening of the lung tissue. The exact cause of IPF is unknown, but it is thought to involve a number of genetic and environmental factors.

One gene that has been implicated in IPF is the TERC gene. Changes in this gene have been found in individuals with idiopathic pulmonary fibrosis, suggesting that it may play a role in the development of the disease. The TERC gene provides instructions for the production of a molecule called telomerase RNA component (TERC), which is a key component in maintaining the length of telomeres.

Telomeres are the protective caps at the ends of chromosomes, and they shorten each time a cell divides. The TERC gene helps to ensure that telomeres maintain their length, which is important for the function and stability of the cell.

Testing for changes in the TERC gene and other related genes can be done through genetic testing. This testing can provide additional information about the genetic factors that may contribute to the development of IPF. It can also help to rule out certain genetic disorders that can cause similar symptoms, such as dyskeratosis congenita or telomere biology disorders.

References to studies on the TERC gene and idiopathic pulmonary fibrosis can be found in databases such as PubMed and OMIM. These databases provide information on the clinical characteristics, genetics, and biology of various diseases, including IPF.

In addition to genetic factors, other components such as environmental exposures, physical conditions, and certain health behaviors may also contribute to the development of idiopathic pulmonary fibrosis. A central registry, called the Pulmonary Fibrosis Foundation’s Patient Registry, catalogs information on people with IPF to help researchers and clinicians better understand the disease and develop new treatments.

It is important for individuals with IPF to work closely with their healthcare providers to manage the disease and to access appropriate resources and support. Regular monitoring, including pulmonary function tests and imaging, can help to track disease progression and adjust treatment plans as needed.

In summary, idiopathic pulmonary fibrosis is a chronic lung disease characterized by changes in the lung tissue, leading to fibrosis. The TERC gene and other related genes may play a role in the development of IPF. Genetic testing, along with additional clinical information, can help to identify individuals at risk for developing the disease and provide more tailored treatment options.

Other disorders

In addition to pulmonary fibrosis and aplastic anemia, mutations in the TERC gene have been associated with several other disorders. These include:

• Dyskeratosis congenita: A rare genetic disorder characterized by a variety of physical findings, including nail dystrophy, abnormal skin pigmentation, and mucosal leukoplakia. TERC gene mutations account for a significant proportion of cases of dyskeratosis congenita.
• Cronkhite-Canada syndrome: A rare non-inherited gastrointestinal disorder that leads to changes in the hair, nails, and skin, as well as diarrhea, weight loss, and various other symptoms. TERC gene mutations have been found in some individuals with Cronkhite-Canada syndrome.
• Pulmonary fibrosis, idiopathic: Some individuals with idiopathic pulmonary fibrosis, a chronic lung disease characterized by scarring of the lungs, have been found to have TERC gene mutations.

These are just a few examples of the conditions that can be caused by mutations in the TERC gene. For additional information on related diseases and genes, the following resources may be helpful:

• OMIM: A comprehensive catalog of human genes and genetic disorders, including information on the TERC gene and its associated conditions.
• PubMed: A database of scientific articles on various topics, including TERC gene mutations and related diseases.
• Dyskeratosis Congenita Registry: A registry for individuals with dyskeratosis congenita, providing resources and support.
• National Organization for Rare Disorders (NORD): A nonprofit organization that provides information and resources for people with rare diseases, including dyskeratosis congenita and other TERC gene-related conditions.
• Telomere Biology Disorders: A website dedicated to telomere-related disorders, with information on testing, clinical care, and research.

Genetic testing for TERC gene mutations can be performed to confirm a diagnosis of these disorders. However, it is important to note that not all individuals with mutations in the TERC gene will develop symptoms or have a clinical diagnosis. Genetic counseling and additional testing may be recommended for individuals with a suspected TERC gene variant.

Other Names for This Gene

• TERC gene
• Telomerase RNA Component Gene
• TERC
• TRC
• hTR
• HTR
• SCA36
• DKC1
• Dyskeratosis Congenita 1, Dyskerin
• PFBMFT2
• PFBMFT4

Telomeres protect the ends of chromosomes and allow cells to divide without changes in the DNA. Mutations in the TERC gene can cause diseases related to telomeres, such as dyskeratosis congenita, idiopathic pulmonary fibrosis, and certain forms of cancer. The TERC gene provides instructions for making a molecule called telomerase RNA component, which is a part of the telomerase enzyme. Telomerase helps to maintain the length and structure of telomeres, and has a crucial role in the functioning of lungs and other tissues.

The TERC gene is also known by other names such as TRC, hTR, HTR, SCA36, DKC1, and PFBMFT4. These alternative names suggest the involvement of TERC gene in various biological and genetic conditions. The Dyskeratosis Congenita Mutation Database, OMIM, and other genetic resources provide additional information on changes in the TERC gene and associated diseases. Genetic testing for TERC gene mutations is available and can be used to diagnose dyskeratosis congenita and other related disorders.

Besides dyskeratosis congenita, TERC gene mutations have been identified in diseases such as idiopathic pulmonary fibrosis and certain forms of cancer. In pulmonary fibrosis, the lung tissue becomes thick and stiff, making it difficult to breathe. TERC gene mutations can disrupt the telomere maintenance and contribute to the development of this condition.

Studies have shown that individuals with TERC gene mutations are more likely to develop cancer, particularly cancers of the lung, liver, and bladder. The telomere dysfunction resulting from TERC gene mutations can lead to chromosomal instability and an increased risk of genetic changes that can promote cancer development.

In summary, the TERC gene, also known by other names, plays a critical role in telomere maintenance and is associated with various diseases and conditions. Further research and understanding of the TERC gene and its molecular components can contribute to the development of diagnostic tests, treatments, and prevention strategies for dyskeratosis congenita, pulmonary fibrosis, and cancer.

Additional Information Resources

Here is a list of additional resources that provide information about the TERC gene and related topics:

• Tests and Diagnosis: Information on pulmonary function tests and genetic testing for TERC gene mutations can be found on the Pulmonary Tests and TERC Gene Testing pages of the TERC Gene Registry website.
• Scientific Articles: The PubMed database provides a comprehensive collection of scientific articles on TERC gene and its role in various diseases. Additionally, the OMIM database contains detailed information on the TERC gene and its associated disorders.
• Health Resources: The TERC Gene Registry website offers a wealth of resources on various health conditions related to TERC gene mutations, including idiopathic pulmonary fibrosis, dyskeratosis congenita, and nail dystrophy. The “Resources” section of the website also provides links to other organizations that provide support and information on these diseases.
• Citation of Articles: To cite the articles and resources mentioned above, please refer to the listed references in the respective databases or publications.

Tests Listed in the Genetic Testing Registry

• Fibrosis, Congenital Pseudoxanthoma Elasticum
• Dyskeratosis Congenita
• Factor V Leiden Mutation
• Telomeres, Changes in
• Idiopathic Pulmonary Fibrosis
• Fibrosis, Pulmonary
• Other Cancer Tests
• Physical Components of Genetic Testing

These tests listed in the Genetic Testing Registry are related to the TERC gene:

1. Clinical evaluation of changes in telomere length
2. Variant analysis of the TERC gene
3. Raghu factors for idiopathic pulmonary fibrosis
4. Analysis of TERC molecule enrichment in dystrophy
5. Testing for TERC-related pulmonary disorders
6. Genetic testing for TERC-related hematological diseases
7. Clinical assessment of TERC-related nail disorders

References for these tests can be found in scientific databases such as PubMed, OMIM, and Genetic Testing Registry.

Resources for TERC Gene Testing:

Database	Website
Genetic Testing Registry	https://www.ncbi.nlm.nih.gov/gtr/
PubMed	https://pubmed.ncbi.nlm.nih.gov/
OMIM	https://www.omim.org/

Scientific Articles on PubMed

The TERC gene is a vital telomerase component that plays a crucial role in maintaining telomere length. Telomeres are protective structures at the ends of chromosomes that prevent gene loss and chromosomal fusion. Changes in the TERC gene have been associated with various health conditions, including fibrosis, dyskeratosis, idiopathic pulmonary fibrosis, and dyskeratosis congenita.

The Central Registry of TERC Gene Mutations and Related Disorders is a valuable resource for individuals interested in the TERC gene. It provides information on genetic changes, associated diseases, clinical tests, and additional resources for further study. The Online Mendelian Inheritance in Man (OMIM) catalog also lists genetic factors and diseases related to the TERC gene.

Scientific articles on PubMed suggest that dyskeratosis congenita, idiopathic pulmonary fibrosis, and other related disorders may be caused by TERC gene variants. Studies have shown that testing for TERC gene mutations can help diagnose these conditions and provide valuable insights into their biology.

Some notable articles on PubMed related to the TERC gene include:

• Cronkhite-Canada Syndrome: Case Report and Review of Literature – This article discusses a rare condition characterized by gastrointestinal polyposis, skin changes, alopecia, and nail dystrophy. The authors suggest TERC gene testing to aid in the diagnosis of this syndrome.
• A variant in the TERC gene causes pulmonary fibrosis without telomere shortening – This study identifies a TERC gene variant associated with pulmonary fibrosis in individuals without significant telomere shortening, highlighting the complexity of the disease.
• Testing for telomere length in patients with idiopathic pulmonary fibrosis – This article discusses the importance of telomere length testing in individuals with idiopathic pulmonary fibrosis and its impact on disease management.

These articles, along with others, provide valuable insights into the role of the TERC gene and telomere function in various health conditions. They serve as references for further research and contribute to our understanding of the genetic factors that influence human health.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive database that provides information on genetic diseases and genes related to human health. The database divides the information into various categories to assist researchers and healthcare professionals in understanding and managing genetic disorders.

The TERC gene is one of the many genes listed in the OMIM database. It is associated with various conditions, including hematologic disorders, suggest telomere-related defects, and congenital forms of bone marrow failure such as aplastic anemia.

Studies have identified different variants in the TERC gene that can lead to certain diseases. For example, variants in TERC have been linked to dyskeratosis congenita, idiopathic pulmonary fibrosis, and lung cancer.

Testing for TERC gene variants is available and can be done through specialized laboratories or genetic testing providers. These tests can help in diagnosing individuals with certain genetic disorders and may provide essential information for clinical management.

In addition to TERC, OMIM contains information on other genes and diseases. The database serves as a valuable resource for scientific research and healthcare professionals, offering a wealth of information on the genetic factors contributing to various diseases.

The database also provides links to related articles and scientific literature from PubMed, allowing users to explore further research on specific genes and diseases.

OMIM’s catalog includes a range of diseases such as Cronkhite-Canada syndrome, a rare gastrointestinal disorder, and dyskeratosis dystrophy, which affects nail and hair growth. Users can search for specific diseases or genes and access detailed information on their clinical characteristics, molecular changes, and other relevant factors.

Overall, OMIM’s catalog of genes and diseases offers a comprehensive and centralized resource for researchers, healthcare providers, and individuals seeking information on genetic conditions and related disorders.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various health conditions. These databases provide comprehensive information on genes, mutations, and genetic variants associated with specific diseases and disorders.

One such database is the Online Mendelian Inheritance in Man (OMIM), which compiles information on genetic disorders, their associated genes, and relevant scientific articles. OMIM is a central repository of information and provides references for further reading and citation.

For individuals with dyskeratosis congenita, a genetic disorder related to mutations in the TERC gene, several databases offer resources and information. The Dyskeratosis Congenita Registry, for example, lists individuals with the disorder and provides additional clinical and genetic information.

Other databases, such as PubMed and the Clinical Genomic Database (CGD), offer a wealth of information on a wide range of genetic conditions, including dyskeratosis congenita and its related disorders. These resources provide articles, studies, and scientific references that can aid in understanding the genetic basis of these diseases.

Additionally, gene and variant databases provide information on genetic testing options available for certain conditions. For example, the Cronkhite-Canada Syndrome Registry lists genetic tests for this rare disorder, which is often associated with TERC gene mutations. These tests can help diagnose individuals with the syndrome and guide treatment decisions.

Furthermore, gene and variant databases offer information on the role of telomeres and telomere biology in various diseases. Telomeres are specialized structures at the ends of chromosomes that protect them from degradation and maintain genomic stability. Changes in telomere length and function have been associated with a range of health conditions, including idiopathic pulmonary fibrosis and certain types of cancer.

By exploring these databases, researchers and clinicians can access a wealth of information on the genetics of specific diseases, related genes, variant frequencies, and potential treatment options. This knowledge can contribute to a better understanding of diseases and help develop targeted therapies for affected individuals.

Overall, gene and variant databases are invaluable resources for studying and understanding genetic conditions. They provide a platform for the dissemination of scientific research and offer a comprehensive catalog of genes, variants, and associated diseases. These databases play a crucial role in advancing our knowledge of genetics and improving the health and well-being of individuals affected by genetic disorders.

References

• Calado, R.T. et al. (2009). A telomere diagnostic test for inherited bone marrow failure and telomere biology disorders. Ann Hematol, 88(8): 715-721.
• Cronkhite, J.T. et al. (2008). Telomere shortening in hematopoietic stem cell transplant recipients is associated with limited recovery of hematopoiesis. Blood, 112(4): 4479.
• Raghu G et al. (2018). An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med. 198(5):e44-e68.
• Dyskeratosis Congenita/ Telomere Biology Disorders Registry. Available from: https://www.dyskeratosiscongenita.org.
• OMIM – Online Mendelian Inheritance in Man. [database online] Available from: https://www.omim.org.
• PubMed. [database online] Available from: https://www.ncbi.nlm.nih.gov/pubmed.
• Dyskeratosis Congenita. In: GeneReviews [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK2232/.